Ontario Genetic Test Directory

This directory lists diagnostic genetic tests available in Ontario for rare and inherited diseases, including molecular genetic, constitutional cytogenetic and pharmacogenetic tests.

This directory does not include:

Please contact your local genetics laboratory to confirm availability of testing, patient eligibility or sample requirements.

See Genetics Guidance for evidence-based clinical guidance on genetic testing in Ontario, and the Ontario Genetics Clinic Directory for a list of genetics clinics in Ontario.

The information in this directory is intended for informational purposes only and may not reflect all recent updates.

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75 Results

SCID ADA

Category: Immunity, Metabolic
Subcategory: Primary immune deficiencies
Test Type: Single Gene

Smith-Lemli-Opitz Syndrome

Category: Metabolic
Subcategory: Smith-Lemli-Opitz Syndrome
Test Type: Single Gene

Succinic semialdehyde dehydrogenase deficiency

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Single Gene

Transcobalamin II Deficiency (TCN2 gene)

Category: Metabolic
Subcategory: Transcobalamin II Deficiency
Test Type: Single Gene

Tyrosinemia

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Tyrosinemia: Elevated Succinylacetone

Category: Metabolic
Subcategory: Tyrosinemia
Test Type: Gene Panel

Tyrosinemia: Elevated Tyrosine

Category: Metabolic
Subcategory: Tyrosinemia
Test Type: Gene Panel

Urea Cycle Diseases: All

Category: Metabolic
Subcategory: Urea Cycle Disorders
Test Type: Gene Panel

Urea Cycle Diseases: High ASA

Category: Metabolic
Subcategory: Urea Cycle Disorders
Test Type: Single Gene

Urea Cycle Diseases: High Citrulline

Category: Metabolic
Subcategory: Urea Cycle Disorders
Test Type: Gene Panel